Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
Cellular genomic approach to the pathogenesis of multiple sclerosis. This project compares the levels of gene usage in two important immune cell types between patients with multiple sclerosis and people who do not have the disease. It aims to identify the molecular basis for the disease, in order to identify new diagnostic, preventative and treatment options.
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Diatom lipids to reveal sea-ice history in remote Antarctic regions. This project aims to understand seasonal Antarctic sea-ice extent using molecular, geochemical, elemental and genomic characteristics of specific marine phytoplankton (diatoms). Little is known of the seasonal sea-ice variation and the position of the summer sea-ice extent a million years before satellite records, but this information is critical to determining air-sea gas exchange and ecosystem food web regulation. This projec ....Diatom lipids to reveal sea-ice history in remote Antarctic regions. This project aims to understand seasonal Antarctic sea-ice extent using molecular, geochemical, elemental and genomic characteristics of specific marine phytoplankton (diatoms). Little is known of the seasonal sea-ice variation and the position of the summer sea-ice extent a million years before satellite records, but this information is critical to determining air-sea gas exchange and ecosystem food web regulation. This project will unite geochemical and biological approaches to provide the data to improve past Antarctic ecosystem and climate models where sea-ice data is missing. Studying diatom biomarkers in deep sea cores from Australia’s Southern Ocean will redefine knowledge of Antarctic climate and provide data necessary to improve global ecosystem and climate models.Read moreRead less